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rs730880297

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730880297(C;T)
Make rs730880297(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position160126416
GeneITGB6, LOC105373717
is asnp
is mentioned by
dbSNPrs730880297
ebirs730880297
HLIrs730880297
Exacrs730880297
Varsomers730880297
Maprs730880297
PheGenIrs730880297
hapmaprs730880297
1000 genomesrs730880297
hgdprs730880297
ensemblrs730880297
gopubmedrs730880297
geneviewrs730880297
scholarrs730880297
googlers730880297
pharmgkbrs730880297
gwascentralrs730880297
openSNPrs730880297
23andMers730880297
23andMe allrs730880297
SNP Nexus

SNPshotrs730880297
SNPdbers730880297
MSV3drs730880297
GWAS Ctlgrs730880297
Max Magnitude0
ClinVar
Risk rs730880297(T;T)
Alt rs730880297(T;T)
Reference rs730880297(C;C)
Significance Pathogenic
Disease Amelogenesis imperfecta
Variation info
Gene ITGB6
CLNDBN Amelogenesis imperfecta, type IH
Reversed 1
HGVS NC_000002.11:g.160982927G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000157640.4,